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Range of clinical manifestations in Farber disease and related disorders

The typical clinical manifestations by organ type that have been reported in cases of Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy in the published literature. Farber disease symptoms are organized by neurologic symptoms, ophthalmic symptoms, cardinal triad symptoms, respiratory symptoms, hematopoietic symptoms, gastrointestinal involvement, dermatological manifestations, liver disease, motor neuron and muscle weakness, and bone disease phenotypes.

Abbreviations: CNS - central nervous system; EMG - electromyography; FD - Farber disease; JIA - juvenile idiopathic arthritis; PNS - peripheral nervous system; SMA-PME - spinal muscular atrophy with progressive myoclonic epilepsy; and SNPs - single nucleotide polymorphisms.

(Source: Yu FP, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018;13(1):121. Creative Commons Attribution 4.0 International License.

Associated Disorders

  • Arthritis